ClinVar Miner

Submissions for variant NM_022114.4(PRDM16):c.2634C>T (p.Pro878=)

gnomAD frequency: 0.00065  dbSNP: rs201338158
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216924 SCV000270756 likely benign not specified 2015-10-22 criteria provided, single submitter clinical testing p.Pro878Pro in exon 10 of PRDM16: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.1% (64/64444) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs201338158).
GeneDx RCV001528382 SCV000530820 likely benign not provided 2021-02-15 criteria provided, single submitter clinical testing
Invitae RCV000469880 SCV000556979 benign Left ventricular noncompaction 8 2023-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001528382 SCV002820990 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing PRDM16: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000216924 SCV003928550 benign not specified 2023-04-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243018 SCV003950345 likely benign Inborn genetic diseases 2023-05-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003929898 SCV004747011 likely benign PRDM16-related condition 2019-05-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528382 SCV001740051 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000216924 SCV001920036 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000216924 SCV001956300 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528382 SCV001967949 likely benign not provided no assertion criteria provided clinical testing

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